Canonical Allele Identifier: CA515642747
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1586145
ClinVar RCV Id: RCV002104753
dbSNP Id: rs1387377929
gnomAD v3: X-38411957-A-G
gnomAD v4: X-38411957-A-G
MyVariant Identifiers: chrX:g.38271210A>G (hg19) chrX:g.38411957A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411957A>G , CM000685.2:g.38411957A>G GRCh38
NC_000023.10:g.38271210A>G , CM000685.1:g.38271210A>G GRCh37
NC_000023.9:g.38156154A>G NCBI36
NG_008471.1:g.64475A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.963A>G MANE Select ENSP00000039007.4:p.Ser321=
ENST00000643344.1:c.*713A>G ENSP00000496606.1:n.*713A>G
ENST00000039007.4:c.963A>G ENSP00000039007.4:p.Ser321=
ENST00000465127.1:c.172-254164A>G ENSP00000417050.1:n.172-254164A>G
NM_000531.5:c.963A>G NP_000522.3:p.Ser321=
NM_000531.6:c.963A>G MANE Select NP_000522.3:p.Ser321=
Search 100 bp 5'
Search 100 bp 3'